AKAP12 A-kinase anchoring protein 12

Canonical transcript: NM_005100

85 unique variant annotations were identified in 71 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-151561307-T-G c.-180+113T>G - intron_variant - 1/4 1
6-151561740-C-G c.43C>G p.Pro15Ala Missense 2/5 - 1
6-151561752-AG-CC c.55_56delinsCC p.Ser19Pro Missense 2/5 - 1
6-151561776-CC-AA c.79_80delinsAA p.Pro27Asn Missense 2/5 - 1
6-151561791-C-T c.94C>T p.Pro32Ser Missense 2/5 - 1
6-151561798-CC-AG c.101_102delinsAG p.Ala34Glu Missense 2/5 - 1
6-151561834-T-G c.137T>G p.Ile46Ser Missense 2/5 - 1
6-151564453-T-C c.162+2594T>C - IntronicSNV - 2/4 2
6-151568873-A-G c.162+7014A>G - IntronicSNV - 2/4 1
6-151572523-G-A c.162+10664G>A - IntronicSNV - 2/4 2
6-151575848-C-T c.162+13989C>T - IntronicSNV - 2/4 1
6-151575944-C-T c.162+14085C>T - IntronicSNV - 2/4 1
6-151576281-A-G c.162+14422A>G - IntronicSNV - 2/4 1
6-151577739-A-T c.162+15880A>T - IntronicSNV - 2/4 1
6-151577830-C-A c.162+15971C>A - IntronicSNV - 2/4 1
6-151577830-C-G c.162+15971C>G - IntronicSNV - 2/4 1
6-151582632-G-A c.162+20773G>A - IntronicSNV - 2/4 2
6-151583969-G-A c.162+22110G>A - IntronicSNV - 2/4 1
6-151583969-G-T c.162+22110G>T - IntronicSNV - 2/4 1
6-151583994-T-C c.162+22135T>C - IntronicSNV - 2/4 1
6-151597937-A-G c.163-28945A>G - IntronicSNV - 2/4 1
6-151602119-A-G c.163-24763A>G - IntronicSNV - 2/4 1
6-151607502-C-G c.163-19380C>G - IntronicSNV - 2/4 1
6-151607502-C-T c.163-19380C>T - IntronicSNV - 2/4 1
6-151612694-A-G c.163-14188A>G - IntronicSNV - 2/4 1
6-151615726-A-G c.163-11156A>G - IntronicSNV - 2/4 2
6-151617378-C-T c.163-9504C>T - IntronicSNV - 2/4 1
6-151622137-C-T c.163-4745C>T - IntronicSNV - 2/4 1
6-151624736-T-G c.163-2146T>G - IntronicSNV - 2/4 1
6-151626671-A-G c.163-211A>G - IntronicSNV - 2/4 1
6-151626928-A-G c.209A>G p.Glu70Gly Missense 3/5 - 1
6-151627003-A-G c.284A>G p.Asn95Ser Missense 3/5 - 1
6-151638269-A-G c.319+11231A>G - IntronicSNV - 3/4 1
6-151646631-G-A c.319+19593G>A - IntronicSNV - 3/4 2
6-151663289-G-A c.320-6557G>A - IntronicSNV - 3/4 1
6-151669875-A-G c.349A>G p.Lys117Glu Missense 4/5 - 6
6-151669922-C-T c.396C>T p.His132His Synonymous 4/5 - 1
6-151670164-G-C c.638G>C p.Gly213Ala Missense 4/5 - 1
6-151670172-A-C c.646A>C p.Lys216Gln Missense 4/5 - 6
6-151670269-G-T c.743G>T p.Ser248Ile Missense 4/5 - 1
6-151670338-A-G c.812A>G p.Glu271Gly Missense 4/5 - 1
6-151670403-G-A c.877G>A p.Gly293Arg Missense 4/5 - 1
6-151670403-G-C c.877G>C p.Gly293Arg Missense 4/5 - 1
6-151670478-G-C c.952G>C p.Glu318Gln Missense 4/5 - 1
6-151670897-T-A c.1371T>A p.Ala457Ala Synonymous 4/5 - 1
6-151670897-T-C c.1371T>C p.Ala457Ala Synonymous 4/5 - 1
6-151670986-A-G c.1460A>G p.Lys487Arg Missense 4/5 - 1
6-151671039-T-G c.1513T>G p.Ser505Ala Missense 4/5 - 1
6-151671047-G-C c.1521G>C p.Glu507Asp Missense 4/5 - 1
6-151671047-G-T c.1521G>T p.Glu507Asp Missense 4/5 - 1
6-151671169-C-T c.1643C>T p.Thr548Ile Missense 4/5 - 1
6-151671195-A-G c.1669A>G p.Ser557Gly Missense 4/5 - 1
6-151671375-GTG-TTT c.1849_1851delinsTTT p.Val617Phe Missense 4/5 - 1
6-151671405-T-G c.1879T>G p.Ser627Ala Missense 4/5 - 2
6-151671474-G-A c.1948G>A p.Ala650Thr Missense 4/5 - 1
6-151671638-A-C c.2112A>C p.Pro704Pro Synonymous 4/5 - 1
6-151671638-A-G c.2112A>G p.Pro704Pro Synonymous 4/5 - 1
6-151671638-A-T c.2112A>T p.Pro704Pro Synonymous 4/5 - 1
6-151671715-C-A c.2189C>A p.Ala730Asp Missense 4/5 - 1
6-151671720-T-G c.2194T>G p.Ser732Ala Missense 4/5 - 1
6-151671840-T-G c.2314T>G p.Ser772Ala Missense 4/5 - 2
6-151672185-AG-GC c.2659_2660delinsGC p.Ser887Ala Missense 4/5 - 1
6-151672185-A-T c.2659A>T p.Ser887Cys Missense 4/5 - 1
6-151672243-T-C c.2717T>C p.Ile906Thr Missense 4/5 - 1
6-151672285-A-G c.2759A>G p.Glu920Gly Missense 4/5 - 2
6-151672333-T-C c.2807T>C p.Val936Ala Missense 4/5 - 1
6-151672659-G-A c.3133G>A p.Ala1045Thr Missense 4/5 - 1
6-151672720-T-C c.3194T>C p.Val1065Ala Missense 4/5 - 1
6-151672812-G-A c.3286G>A p.Val1096Ile Missense 4/5 - 1
6-151672900-A-C c.3374A>C p.Gln1125Pro Missense 4/5 - 1
6-151673070-G-A c.3544G>A p.Ala1182Thr Missense 4/5 - 2
6-151673179-A-T c.3653A>T p.Lys1218Ile Missense 4/5 - 1
6-151673413-G-A c.3887G>A p.Arg1296Gln Missense 4/5 - 1
6-151673413-G-C c.3887G>C p.Arg1296Pro Missense 4/5 - 1
6-151673413-G-T c.3887G>T p.Arg1296Leu Missense 4/5 - 1
6-151673589-G-A c.4063G>A p.Glu1355Lys Missense 4/5 - 1
6-151674119-GGA-GGAGGA c.4593_4595dup p.Glu1531dup InFrameInsertion 4/5 - 2
6-151674121-A-AGGC c.4595_4596insGGC p.Asp1532delinsGluAla MultiAAMissense 4/5 - 1
6-151674243-A-G c.4717A>G p.Thr1573Ala Missense 4/5 - 1
6-151674270-G-A c.4744G>A p.Val1582Met Missense 4/5 - 2
6-151674326-A-C c.4800A>C p.Glu1600Asp Missense 4/5 - 6
6-151674504-G-A c.4978G>A p.Val1660Ile Missense 4/5 - 1
6-151674593-G-T c.5067G>T p.Glu1689Asp Missense 4/5 - 1
6-151675854-T-C c.*979T>C - IntronicSNV 5/5 - 2
6-151676908-T-C c.*59T>C - 3_prime_UTR_variant 5/5 - 1